A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981890



Internal ID12627408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..20916585hg38UCSC Ensembl
Innerchr15:20167089..21121914hg19UCSC Ensembl
Innerchr15:18427103..19386547hg18UCSC Ensembl
Innerchr15:18427103..19386547hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38954750
hg19954826
hg18959445
hg17959445
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34820
Supporting Variants
SamplesBEC_5
Known GenesCHEK2P2, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981890
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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